Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV002625072 | SCV003519780 | uncertain significance | Hermansky-Pudlak syndrome 2 | 2022-07-05 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with AP3B1-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant is present in population databases (rs567754566, gnomAD 0.05%). This sequence change replaces aspartic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 530 of the AP3B1 protein (p.Asp530Gly). |
| Ambry Genetics | RCV004072005 | SCV004905790 | uncertain significance | Inborn genetic diseases | 2024-02-17 | criteria provided, single submitter | clinical testing | The c.1589A>G (p.D530G) alteration is located in exon 15 (coding exon 15) of the AP3B1 gene. This alteration results from a A to G substitution at nucleotide position 1589, causing the aspartic acid (D) at amino acid position 530 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |